MARFAN

SYNDROME
Clinical Features
• A multisystemic connective tissue disorder
• Characterized in skeletal, cardiac and ophthalmic
manifestations
• The diagnosis requires at least two disorders (family history,
cardiac, ocular, skeletal, pulmonary or spinal)

Ocular
Marfan
Syndrome Extraocula
r
OCULAR
• Major  displacement of crystalline lens in any direction
• Common : congenital upwards subluxation
• Myopic condition  alteration of lens shape, increased axial length
and/or corneal flattening
• The risk of retinal detachment increase in patient with higher axial
length and/or lens dislocations
EXTRAOCULAR
• Affect multiple organ systems
• Generally : tall, thin and inability to Arachnodactyly
increase weight
• Skeletal  increase height with
disproportionately long limbs,
arachnodactyly, pectus abnormality, pes
planus, significant scoliosis, reduced
elbow extension and a narrow, highly
arched palate.

Marfanoid
Marfanoid Habitus
Habitus
Epidemiology and Etiology
• 1: 15.000-20.000 births
• Lens luxation is of early-onset and patients may present with
reduced vision during childhood.
• Inheritance : Autosomal dominant
• Chromosomal location: 15q21.1
• Gene : Fibrillin 1 (FBN1)
Pathophysiology
• Zonular fibers are rich in fibrillin

changes
changes in
in its
its
abnormalities
abnormalities Loss
Loss of
of normal
normal displacement
displacement of
of curvature
curvature and
and
of
of fibrilin
fibrilin 11 zonular
zonular support
support the
the lens
lens refractive
refractive
power
power
Diagnosis
• Some conditions mimic MFS1 including MASS phenotype
(Mitral valve prolapse, mild Aortic root dilatation, Skin
involvement (striae) and Skeletal findings).
• A definitive diagnosis  based on clinical examination
(skeletal, ophthalmic and cardiovascular) and targeted
investigation (e.g. ECG, CXR and MRI of the spine).
Clinical Manifestations
• Common : Subluxation of the crystalline lens; dilatation of the
aortic root and aneurysm of the ascending aorta; and skeletal
abnormalities such as kyphoscoliosis, an upper segment/lower
segment and pectus excavatum.
• Auxiliary signs : myopia, mitral valve prolapse, arachnodactyly,
joint laxity, tall stature, pes planus, striae distensae,
pneumothorax, obstructive sleep apnea.
Treatment
• Ocular
Careful and repeated phakic or aphakic refractions are
necessary to achieve the best possible vision
The surgical management of Ectopic Lens is varied and
controversial
Visual prognosis is good if amblyopia is treated and
appropriate optical correction is instituted early.
Retinal detachment remains the leading cause of severe visual
loss